List of variants reported as likely pathogenic for X-linked lymphoproliferative disease due to SH2D1A deficiency

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_123497345)_(123505232_?)del
NC_000023.10:g.(?_123499639)_(123506985_?)del
NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]
NM_002351.5(SH2D1A):c.138-3C>G	rs1556620697
NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)
NM_002351.5(SH2D1A):c.197_201+9del	rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C	rs2147531379
NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg)	rs111033625
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly)	rs1556619319

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